Sökresultat - Leguern, Eric

Genetics of inherited human epilepsies av Gourfinkel-An, Isabelle, Baulac, Stéphanie, Brice, Alexis, Leguern, Eric, Baulac, Michel

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Does epilepsy in multiplex autism pedigrees define a different subgroup in terms of clinical characteristics and genetic risk? av Amiet, Claire, Gourfinkel-An, Isabelle, Laurent, Claudine, Bodeau, Nicolas, Génin, Bérengère, Leguern, Eric, Tordjman, Sylvie, Cohen, David

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Epilepsy Gene LGI1 Regulates Postnatal Developmental Remodeling of Retinogeniculate Synapses av Zhou, Yu-Dong, Zhang, Dawei, Ozkaynak, Ekim, Wang, Xuan, Kasper, Ekkehard M., Leguern, Eric, Baulac, Stéphanie, Anderson, Matthew P.

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Depdc5 knockdown causes mTOR‐dependent motor hyperactivity in zebrafish av de Calbiac, Hortense, Dabacan, Adriana, Marsan, Elise, Tostivint, Hervé, Devienne, Gabrielle, Ishida, Saeko, Leguern, Eric, Baulac, Stéphanie, Muresan, Raul C., Kabashi, Edor, Ciura, Sorana

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Second-hit mosaic mutation in mTORC1 repressor DEPDC5 causes focal cortical dysplasia–associated epilepsy av Ribierre, Théo, Deleuze, Charlotte, Bacq, Alexandre, Baldassari, Sara, Marsan, Elise, Chipaux, Mathilde, Muraca, Giuseppe, Roussel, Delphine, Navarro, Vincent, Leguern, Eric, Miles, Richard, Baulac, Stéphanie

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Lafora progressive myoclonus epilepsy: NHLRC1 mutations affect glycogen metabolism av Couarch, Philippe, Vernia, Santiago, Gourfinkel-An, Isabelle, Lesca, Gaëtan, Gataullina, Svetlana, Fedirko, Estelle, Trouillard, Oriane, Depienne, Christel, Dulac, Olivier, Steschenko, Dominique, Leguern, Eric, Sanz, Pascual, Baulac, Stéphanie

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Epilepsy Caused by an Abnormal Alternative Splicing with Dosage Effect of the SV2A Gene in a Chicken Model av Douaud, Marine, Feve, Katia, Pituello, Fabienne, Gourichon, David, Boitard, Simon, Leguern, Eric, Coquerelle, Gérard, Vieaud, Agathe, Batini, Cesira, Naquet, Robert, Vignal, Alain, Tixier-Boichard, Michèle, Pitel, Frédérique

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Genome-Wide High-Resolution aCGH Analysis of Gestational Choriocarcinomas av Poaty, Henriette, Coullin, Philippe, Peko, Jean Félix, Dessen, Philippe, Diatta, Ange Lucien, Valent, Alexander, Leguern, Eric, Prévot, Sophie, Gombé-Mbalawa, Charles, Candelier, Jean-Jacques, Picard, Jean-Yves, Bernheim, Alain

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Glutamatergic neuron-targeted loss of LGI1 epilepsy gene results in seizures av Boillot, Morgane, Huneau, Clément, Marsan, Elise, Lehongre, Katia, Navarro, Vincent, Ishida, Saeko, Dufresnois, Béatrice, Ozkaynak, Ekim, Garrigue, Jérôme, Miles, Richard, Martin, Benoit, Leguern, Eric, Anderson, Matthew P., Baulac, Stéphanie

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Mutations of DEPDC5 cause autosomal dominant focal epilepsies av Ishida, Saeko, Picard, Fabienne, Rudolf, Gabrielle, Noé, Eric, Achaz, Guillaume, Thomas, Pierre, Genton, Pierre, Mundwiller, Emeline, Wolff, Markus, Marescaux, Christian, Miles, Richard, Baulac, Michel, Hirsch, Edouard, Leguern, Eric, Baulac, Stéphanie

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Evidence of mosaicism in SPAST variant carriers in four French families av Angelini, Chloé, Goizet, Cyril, Said, Samia Ait, Camu, William, Depienne, Christel, Heron, Bénédicte, Kol, Bophara, Guillaud-Bataille, Marine, Pennamen, Perrine, Rooryck, Caroline, Scherer-Gagou, Clarisse, Tissier, Laurène, Stevanin, Giovanni, Leguern, Eric, Banneau, Guillaume

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Novel GABRG2 mutations cause familial febrile seizures av Boillot, Morgane, Morin-Brureau, Mélanie, Picard, Fabienne, Weckhuysen, Sarah, Lambrecq, Virginie, Minetti, Carlo, Striano, Pasquale, Zara, Federico, Iacomino, Michele, Ishida, Saeko, An-Gourfinkel, Isabelle, Daniau, Mailys, Hardies, Katia, Baulac, Michel, Dulac, Olivier, Leguern, Eric, Nabbout, Rima, Baulac, Stéphanie

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Involvement of ADGRV1 Gene in Familial Forms of Genetic Generalized Epilepsy av Dahawi, Maha, Elmagzoub, Mohamed S., A. Ahmed, Elhami, Baldassari, Sara, Achaz, Guillaume, Elmugadam, Fatima A., Abdelgadir, Wasma A., Baulac, Stéphanie, Buratti, Julien, Abdalla, Omer, Gamil, Sahar, Alzubeir, Maha, Abubaker, Rayan, Noé, Eric, Elsayed, Liena, Ahmed, Ammar E., Leguern, Eric

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A National French Consensus on Gene List for the Diagnosis of Charcot–Marie–Tooth Disease and Related Disorders Using Next-Generation Sequencing av Benquey, Thibaut, Pion, Emmanuelle, Cossée, Mireille, Krahn, Martin, Stojkovic, Tanya, Perrin, Aurélien, Cerino, Mathieu, Molon, Annamaria, Lia, Anne-Sophie, Magdelaine, Corinne, Francou, Bruno, Guiochon-Mantel, Anne, Malinge, Marie-Claire, Leguern, Eric, Lévy, Nicolas, Attarian, Shahram, Latour, Philippe, Bonello-Palot, Nathalie

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Role of the phosphoinositide phosphatase FIG4 gene in familial epilepsy with polymicrogyria av Baulac, Stéphanie, Lenk, Guy M., Dufresnois, Béatrice, Ouled Amar Bencheikh, Bouchra, Couarch, Philippe, Renard, Julie, Larson, Peter A., Ferguson, Cole J., Noé, Eric, Poirier, Karine, Hubans, Christine, Ferreira, Stéphanie, Guerrini, Renzo, Ouazzani, Reda, El Hachimi, Khalid Hamid, Meisler, Miriam H., Leguern, Eric

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LRSAM1 variants and founder effect in French families with ataxic form of Charcot-Marie-Tooth type 2 av Peretti, Alessia, Perie, Maud, Vincent, Didier, Bouhour, Françoise, Dieterich, Klaus, Mallaret, Martial, Duval, Fanny, Goizet, Cyril, Juntas-Morales, Raul, Magy, Laurent, Solé, Guilhem, Nollet, Sylvain, Not, Adeline, Léonard-Louis, Sarah, Francou, Bruno, Leguern, Eric, Lia, Anne-Sophie, Magdelaine, Corinne, Latour, Philippe, Stojkovic, Tanya

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Germline and somatic mutations in the MTOR gene in focal cortical dysplasia and epilepsy av Møller, Rikke S., Weckhuysen, Sarah, Chipaux, Mathilde, Marsan, Elise, Taly, Valerie, Bebin, E. Martina, Hiatt, Susan M., Prokop, Jeremy W., Bowling, Kevin M., Mei, Davide, Conti, Valerio, de la Grange, Pierre, Ferrand-Sorbets, Sarah, Dorfmüller, Georg, Lambrecq, Virginie, Larsen, Line H.G., Leguern, Eric, Guerrini, Renzo, Rubboli, Guido, Cooper, Gregory M., Baulac, Stéphanie

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Recessive loss-of-function mutations in AP4S1 cause mild fever-sensitive seizures, developmental delay and spastic paraplegia through loss of AP-4 complex assembly av Hardies, Katia, May, Patrick, Djémié, Tania, Tarta-Arsene, Oana, Deconinck, Tine, Craiu, Dana, Helbig, Ingo, Suls, Arvid, Balling, Rudy, Weckhuysen, Sarah, De Jonghe, Peter, Hirst, Jennifer, Afawi, Zaid, Barisic, Nina, Baulac, Stéphanie, Caglayan, Hande, Depienne, Christel, De Kovel, Carolien G.F., Dimova, Petia, Guerrero-López, Rosa, Guerrini, Renzo, Hjalgrim, Helle, Hoffman-Zacharska, Dorota, Jahn, Johanna, Klein, Karl Martin, Koeleman, Bobby P.C., Leguern, Eric, Lehesjoki, Anna-Elina, Lemke, Johannes, Lerche, Holger, Marini, Carla, Muhle, Hiltrud, Rosenow, Felix, Serratosa, Jose M., Møller, Rikke S., Stephani, Ulrich, Striano, Pasquale, Talvik, Tiina, Von Spiczak, Sarah, Weber, Yvonne, Zara, Federico

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Pitfalls in genetic testing: the story of missed SCN1A mutations av Djémié, Tania, Weckhuysen, Sarah, von Spiczak, Sarah, Carvill, Gemma L., Jaehn, Johanna, Anttonen, Anna‐Kaisa, Brilstra, Eva, Caglayan, Hande S., de Kovel, Carolien G., Depienne, Christel, Gaily, Eija, Gennaro, Elena, Giraldez, Beatriz G., Gormley, Padhraig, Guerrero‐López, Rosa, Guerrini, Renzo, Hämäläinen, Eija, Hartmann, Corinna, Hernandez‐Hernandez, Laura, Hjalgrim, Helle, Koeleman, Bobby P. C., Leguern, Eric, Lehesjoki, Anna‐Elina, Lemke, Johannes R., Leu, Costin, Marini, Carla, McMahon, Jacinta M., Mei, Davide, Møller, Rikke S., Muhle, Hiltrud, Myers, Candace T., Nava, Caroline, Serratosa, Jose M., Sisodiya, Sanjay M., Stephani, Ulrich, Striano, Pasquale, van Kempen, Marjan J. A., Verbeek, Nienke E., Usluer, Sunay, Zara, Federico, Palotie, Aarno, Mefford, Heather C., Scheffer, Ingrid E., De Jonghe, Peter, Helbig, Ingo, Suls, Arvid

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Intronic ATTTC repeat expansions in STARD7 in familial adult myoclonic epilepsy linked to chromosome 2 av Corbett, Mark A., Kroes, Thessa, Veneziano, Liana, Bennett, Mark F., Florian, Rahel, Schneider, Amy L., Coppola, Antonietta, Licchetta, Laura, Franceschetti, Silvana, Suppa, Antonio, Wenger, Aaron, Mei, Davide, Pendziwiat, Manuela, Kaya, Sabine, Delledonne, Massimo, Straussberg, Rachel, Xumerle, Luciano, Regan, Brigid, Crompton, Douglas, van Rootselaar, Anne-Fleur, Correll, Anthony, Catford, Rachael, Bisulli, Francesca, Chakraborty, Shreyasee, Baldassari, Sara, Tinuper, Paolo, Barton, Kirston, Carswell, Shaun, Smith, Martin, Berardelli, Alfredo, Carroll, Renee, Gardner, Alison, Friend, Kathryn L., Blatt, Ilan, Iacomino, Michele, Di Bonaventura, Carlo, Striano, Salvatore, Buratti, Julien, Keren, Boris, Nava, Caroline, Forlani, Sylvie, Rudolf, Gabrielle, Hirsch, Edouard, Leguern, Eric, Labauge, Pierre, Balestrini, Simona, Sander, Josemir W., Afawi, Zaid, Helbig, Ingo, Ishiura, Hiroyuki, Tsuji, Shoji, Sisodiya, Sanjay M., Casari, Giorgio, Sadleir, Lynette G., van Coller, Riaan, Tijssen, Marina A. J., Klein, Karl Martin, van den Maagdenberg, Arn M. J. M., Zara, Federico, Guerrini, Renzo, Berkovic, Samuel F., Pippucci, Tommaso, Canafoglia, Laura, Bahlo, Melanie, Striano, Pasquale, Scheffer, Ingrid E., Brancati, Francesco, Depienne, Christel, Gecz, Jozef

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